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6Department of Health Western Australia, Perth, Western Australia, Australia

Correspondence to Dr Nigel George Laing, Centre for Medical Research, Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, WA 6009, Australia; nigel.laing{at}uwa.edu.au

Abstract

Background Preconception carrier screening (PCS) provides the potential to empower couples to make reproductive choices before having an affected child. An important question is what factors influence the decision to use or not use PCS.

Methods We analysed the relationship between knowledge, attitudes and intentions to participate in PCS using logistic regression in 832 participants in Western Australia.

Results Two-thirds of participants said they would take the test, with 92% of these supporting screening for diseases reducing the lifespan of children and infants. Those who had good genetic knowledge were seven times more likely to intend to use PCS (p≤0.001), while those with high genetic knowledge were four times more likely to (p=0.002) and raised concerns such as insurance and confidentiality.

80% of participants stated they would prefer to access the test through their general practitioners and 30% would pay up to $A200.

Conclusions Knowledge is instrumental in influencing participation. Having good genetic knowledge may not be enough to understand core concepts of PCS and may impact informed decision-making. This study recommends that continuous education of health professionals and thus the community, in PCS is crucial to reduce misconceptions.

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Footnotes

Contributors RO, DH, PC, CM, GR, NGL designed the study. RO designed, analysed and administered the survey instrument, drafted the manuscript, coordinated the revisions and submitted the manuscript. DH, AR, HC, CM, GR, NGL participated in the data analysis. AR provided technical expertise in the data analysis. All authors commented on various versions of the manuscript, agreed on the final version to be published and can attest to the integrity of the work.

Funding HC is supported by a National Heart Foundation Future Leader Fellowship (#100794). NL is supported by an Australian National Health and Medical Research Council Principal Research Fellowship (APP1117510). GR is supported by an Australian National Health and Medical Research Council Career Development Fellowship Level 1 (APP1122952). RO is supported by an Australian Postgraduate Award and an Australian Genomics Health Alliance PhD top-up award.

Disclaimer The funding agencies had no involvement in the design, completion or writing of this study.

Competing interests None declared.

Patient consent Not required.

Ethics approval Ethics approval for the study was granted by the Human Research Ethics Committee of the University of Western Australia (RA/4/1/8847).

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